Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln<sub>49 </sub>TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes
<p>Abstract</p> <p>Background</p> <p>Spinocerebellar ataxia type 17 (SCA17), a neurodegenerative disorder in man, is caused by an expanded polymorphic polyglutamine-encoding trinucleotide repeat in the gene for TATA-box binding protein (TBP), a main transcription factor...
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Format: | Book |
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BMC,
2005-07-01T00:00:00Z.
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A1234.567 |
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